MCID: BMR003
MIFTS: 9

Beemer Ertbruggen Syndrome

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Beemer Ertbruggen Syndrome

MalaCards integrated aliases for Beemer Ertbruggen Syndrome:

Name: Beemer Ertbruggen Syndrome 53 72
Peculiar Facial Appearance, Hydrocephalus, Double-Outlet Right Ventricle, Genital Anomalies and Dense Bones with Lethal Outcome 53
Hydrocephalus, Cardiac Malformation, Dense Bones, Etc 53
Beemer Lethal Malformation Syndrome 53

Classifications:



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UMLS 72 C1859526

Summaries for Beemer Ertbruggen Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1237DefinitionBeemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. There have been no further descriptions in the literature since 1984.Visit the Orphanet disease page for more resources.

MalaCards based summary : Beemer Ertbruggen Syndrome, also known as peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome, is related to beemer lethal malformation syndrome and hydrocephalus. Affiliated tissues include bone.

Related Diseases for Beemer Ertbruggen Syndrome

Diseases related to Beemer Ertbruggen Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 beemer lethal malformation syndrome 11.7
2 hydrocephalus 10.6
3 double outlet right ventricle 10.6
4 congenital hydrocephalus 10.6

Symptoms & Phenotypes for Beemer Ertbruggen Syndrome

Drugs & Therapeutics for Beemer Ertbruggen Syndrome

Search Clinical Trials , NIH Clinical Center for Beemer Ertbruggen Syndrome

Genetic Tests for Beemer Ertbruggen Syndrome

Anatomical Context for Beemer Ertbruggen Syndrome

MalaCards organs/tissues related to Beemer Ertbruggen Syndrome:

41
Bone

Publications for Beemer Ertbruggen Syndrome

Articles related to Beemer Ertbruggen Syndrome:

# Title Authors PMID Year
1
Peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome. 38
6507485 1984

Variations for Beemer Ertbruggen Syndrome

Expression for Beemer Ertbruggen Syndrome

Search GEO for disease gene expression data for Beemer Ertbruggen Syndrome.

Pathways for Beemer Ertbruggen Syndrome

GO Terms for Beemer Ertbruggen Syndrome

Sources for Beemer Ertbruggen Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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